Evidence map›Paper›PMID 41362569›Full record

ArticleCureus2025

Slow-Channel Congenital Myasthenic Syndrome due to a CHRNA1 Variant Masquerading as Atypical Anorexia Nervosa: A Case Report.

Timothy Ming Him Yeung, Yuan Gao, Chun Fung So, Tsz Ki Ling, Ching Wan Lam

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Timothy Ming Him YeungDivision of Chemical Pathology, Department of Pathology, Queen Mary Hospital, Hong Kong, HKG.
Yuan GaoDivision of Neurology, Department of Medicine, Queen Mary Hospital, School of Clinical Medicine, The University of Hong Kong, Hong Kong, HKG.
Chun Fung SoDivision of Chemical Pathology, Department of Pathology, Queen Mary Hospital, Hong Kong, HKG.
Tsz Ki LingDivision of Chemical Pathology, Department of Pathology, Queen Mary Hospital, Hong Kong, HKG.
Ching Wan LamDepartment of Pathology, The University of Hong Kong, Hong Kong, HKG.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital myasthenic syndrome (CMS) is a group of inherited disorders characterized by skeletal muscle weakness resulting from dysfunction of the neuromuscular junction. Here, we report a case of a 42-year-old woman with slow-channel congenital myasthenic syndrome (SCCMS) whose phenotype included low body weight, which mimicked anorexia nervosa. The patient experienced progressive weight loss from 45kg (BMI 18.3) to 34kg (BMI 13.8) during her 20s despite not engaging in dieting, purging, or excessive exercising, nor did she express a desire to lose weight. The patient had asymmetrical fatigable weakness since the age of 10. Electrophysiology studies identified repetitive compound motor action potentials on nerve stimulation. Heterozygous NM_000079.4(

Indexed as

anorexia nervosa (an)chrna1congenital myasthenic syndrome (cms)low body weightneurogeneticneuromuscular junction disordersslow-channel congenital myasthenic syndrome (sccms)

Identifiers

PMID41362569
PMCPMC12681908

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.